Jonathan’s Fight for a Cure

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Jonathan was a healthy and happy baby at birth. However, after months passed, Jonathan was not developing like a typical baby. He had very low muscle tone and was not able to sit, roll, crawl, or walk. After noticing these delays, he was tested and diagnosed with Mecp2 Duplication Syndrome, a progressive genetic disorder in which people rarely live past 25 years old due to severe respiratory issues, uncontrollable seizures, and other complications. Children with this disorder are nonverbal and most cannot walk.

While therapy can help make children with this disorder a little stronger, seizures usually take away any strength that was once gained. Many children are put on feeding tubes and seizure medications are heavily given to try to control seizures without much luck.

We've watched children deteriorate from this illness as they grow older, even starting at 5 or 6 years old. Their quality of life is taken away, and they cannot enjoy things that other children their age can enjoy. We try to give Jonathan as much as we can in terms of health, experiences, and enjoyment, but we know that this illness really has control over everything, and as he gets older, we worry what this illness will bring. No child should have to suffer from several seizures a day or weeks of hospital stays.

Doctors are working hard to find a cure, and families are working hard to fund research and trials that can ultimately reverse this disorder and allow our children to be kids and enjoy all aspects of life. Please consider making a donation, small or large, whatever you can give, so that our children have a fighting chance and can enjoy their childhood and even grow into adulthood. Every little bit is one step closer to finding a cure.

Laura & Edwin Rojas

What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.

The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children.

The MECP2 Duplication Syndrome may be quite prevalent. Preliminary studies suggest that 1% of cases of X-linked intellectual disability may be due to this syndrome. The core phenotypes in boys include infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features, and seizures. Females with MECP2 duplication without X chromosome inactivation skewing have been reported and present similarly to boys.

Learn more about it here.

Who is RSRT?

The Rett Syndrome Research Trust (RSRT) was launched in 2008 with a singular goal: to drive the development of treatments and cures for Rett Syndrome and related MECP2 disorders. As one of the few neurological disorders to demonstrate dramatic symptom reversal in the lab, Rett Syndrome has captured the attention of the world’s premiere university and pharmaceutical industry scientists. RSRT is operating at the nexus of this activity, leading and advancing the research agenda.

By funding the most Rett research worldwide, $35 million since 2008, we strive to put ourselves out of business as soon as possible.

Learn more about RSRT here.

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